Sorsby Fundus Dystrophy

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant inherited form of retinal dystrophy caused by mutation(s) in the TIMP3 gene, encoding metalloproteinase inhibitor 3. It is characterized by night blindness or sudden loss of visual acuity, usually in the third to fourth decades of life due to choroidal neovascularization.

**Synonyms:** - SFD